Details of Disease | DrugMAP

General Information of Disease (ID: DISF9AZ9)

Disease Name	Congenital disorder of glycosylation, type IIr
Synonyms	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R; CDG IIr; congenital disorder of glycosylation, type IIr, X-linked recessive
Disease Hierarchy	DISEMWE1: Congenital disorder of glycosylation type II DISF9AZ9: Congenital disorder of glycosylation, type IIr
Disease Identifiers	MONDO ID MONDO_0026765 UMLS CUI C5393313 OMIM ID 301045 MedGen ID 1717186

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6AP2	OT0IABVV	Strong	X-linked	[1]
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References

1	Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. J Exp Med. 2017 Dec 4;214(12):3707-3729. doi: 10.1084/jem.20170453. Epub 2017 Nov 10.